Abstract
Here we present the data obtained during medical genetic examination of the population of five districts of Bashkortostan Republic (Burzyanskii, Baimakskii, Abzelilovskii, Salavatskii, and Arkhangelskii) populated with 168050 persons including 135748 Bashkirs. The study involved all the population of the districts including each ethnic group and was conducted according to standard protocol developed in the Laboratory of Genetic Epidemiology, Medical Genetic Research Center, Russian Academy of Medical Sciences. Based on segregation analysis, the values of prevalence rates of the major types of Mendelian pathology (AD, AR, and X-linked diseases) was calculated in five regions of the Republic as well as for Bashkirs alone. Significant differences in the prevalence rates of AD and AR pathologies between individual districts, in particular upon division in rural and urban population, was observed. The prevalence rates comparison of monogenic hereditary pathology among Bashkirs compared to other previously examined populations have shown that the patterns of the hereditary disease load in the inspected districts of Bashkortostan were similar to that observed in the population of some districts in Udmurtia, Marii El and Chuvashiya. Russian European populations have shown significantly lower load of hereditary diseases. Correlation analysis of local inbreeding, endogamy and prevalence rates of AD and AR pathologies has shown that development of hereditary diseases load is significantly affected by gene drift.
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References
Mediko-geneticheskoe opisanie naseleniya Adygei (Medical Genetic Description of Adygea Population), Ginter, E.K., Ed., Maikop, 1997.
Nasledstvennye bolezni v populyatsiyakh cheloveka (Hereditary Diseases in Human Populations), Ginter, E.K., Ed., Moscow: Meditsina, 2002.
Geneticheskaya struktura i nasledstvennye bolezni chuvashskoi populyatsii (Genetic Structure and Hereditary Diseases in Chuvash Population), Ginter, E.K. and Zinchenko, R.A., Eds., Cheboksary: “Pegas”, 2006.
Amelina, S.S., Shokarev, R.A., Kriventsova, N.V., et al., Genetic Epidemiologic Study of the Rostov Oblast, Med. Genet., 2005, vol. 4, no. 8, pp. 371–377.
Zinchenko, R.A., El’chinova, G.I., Kozlova, S.I., et al., Epidemiology of Hereditary Diseases in the Republic of Chuvashia, Med. Genet., 2002, vol. 1, no. 1, pp. 24–33.
Kuzeev, R.G., Istoricheskaya etnografiya bashkirskogo naroda (Historic Ethnography of Bashkirian Population), Ufa, 1978.
Kuzeev, R.G., Proiskhozhdenie bashkirskogo naroda: Etnicheskii sostav, istoriya rasseleniya (The Origin of Bashkirian Population: Ethnic Composition, History of Settlement), Moscow, 1974.
Physical (Biological) Anthropology, Etnograficheskoe obozrenie (Ethnographic Review), 2003, no. 2, pp. 110–125.
Goryunova, E.I., Etnicheskaya istoriya Volgo-Okskogo mezhdurech’ya: Materialy i issledovaniya po arkheologii SSSR (Ethnic History of the Volga-Oka Interfluve: Materials and Investigations in Archaeology), Moscow, 1961.
Khusnutdinova, E.K., Molekulyarnaya etnogenetika narodov Volgo-Ural’skogo regiona (Molecular Ethnogenetics of Populations of the Volga-Ural Region), Ufa: Gilem, 1999.
Ginter, E.K. and Zinchenko, R.A., Hereditary Disorders in the Russian Populations, Vestn. VOGiS, 2006, vol. 10, no. 1, pp. 106–125.
Terekhovskaya, I.G., El’chinova, G.I., Khidiyatova, I.M., et al., Medical Genetic Study of Bashkortostan Population: IV. Reproductive Characteristic of Five Rural Regions, Med. Genet., 2007, vol. 6, no. 8(62), pp. 14–20.
El’chinova, G.I., Khidiyatova, I.M., Terekhovskaya, I.G., et al., Endogamy Index and Its Dynamics in Some Populations of the Volga-Ural Region, Russ. J. Genet., 2007, vol. 43, no. 8, pp. 1146–1148.
El’chinova, G.I., Khidiyatova, I.M., Morozova, A.A., et al., Medico-Genetic Study of Population in Republic of Bashkortostan: 3. Temporal Dynamics of Ethnic Assortativeness among Transural Bashkirs, Med. Genet., 2007, vol. 6, no. 7(61), pp. 43–46.
Crow, J.F., Some Possibilities for Measuring Selection Intensities in Man, Hum. Biol., 1958, vol. 30, pp. 1–13.
Morton, N.E., Isolation by Distance in Human Populations, Ann. Hum. Genet., 1977, vol. 40, pp. 361–365.
Morton, N.E., Genetic Tests under Incomplete Ascertainment, Am. J. Hum. Genet., 1959, vol. 11, pp. 1–16.
Cavalli-Sforza, L.L. and Bodmer, W.F., The Genetics of Human Populations, San Francisco: Freeman, 1971.
Altukhov, Yu.P., Geneticheskie protsessy v populyatsiyakh (Genetic Processes in Populations), Moscow: Akademkniga, 2003.
Ginter, E.K., Meditsinskaya genetika (Medical Genetics), Moscow: Meditsina, 2003.
Zinchenko, R.A., El’chinova, G.I., Balanovskaya, E.V., et al., The Influence of Population Genetic Structure on the Load of Monogenetic Hereditary Diseases in Russian Populations, Vestn. Ross. Akad. Med. Nauk, 2000, no. 5, pp. 5–10.
Zinchenko, R.A., El’chinova, G.I., and Ginter, E.K., Association between Endogamy Index of Russian Populations, Occasional Inbreeding and Hereditary Diseases Burden, Med. Genet., 2003, no. 9, pp. 432–436.
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Original Russian Text © S.Sh. Murzabaeva, R.A. Zinchenko, Ya.I. Greenberg, V.A. Galkina, O.V. Khlebnikova, E.L. Dadali, V.P. Fedotov, G.I. El’chinova, I.G. Terekhovskaia, I.M. Khidiyatova, E.K. Khusnutdinova, E.K. Ginter, 2009, published in Genetika, 2009, Vol. 45, No. 4, pp. 546–554.
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Murzabaeva, S.S., Zinchenko, R.A., Greenberg, Y.I. et al. Genetic epidemiological study of Bashkortostan Republic: The effect of genetic structure of population on the load of monogenic hereditary diseases. Russ J Genet 45, 478–485 (2009). https://doi.org/10.1134/S1022795409040139
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DOI: https://doi.org/10.1134/S1022795409040139